Product Details

SNP ID

rs2234429

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23562741 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATTGGCACTAAAGGTATGTTCTT[C/T]CTCGCCTCCTTGCTGGCCCACTGCC

Phenotype

MIM: 612799

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

EARS2 PubMed Links

Additional Information

For this assay, SNP(s) [rs78924422] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

EARS2

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

There are no transcripts associated with this gene.

Gene

UBFD1

Gene Name

ubiquitin family domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019116.2		Intron			NP_061989.2
XM_011545894.2		Intron			XP_011544196.1
XM_017023459.1		Intron			XP_016878948.1
XM_017023460.1		Intron			XP_016878949.1

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